A New Mutation in Domain IV of SCN 5A in Chinese Han with Brugada Syndrome

Background Brugada syndrome is associated with high risk of sudden cardiac death and the muta- tions in the cardiac voltage-gated sodium channel gene has been shown as the cause of the syndrome.Objective To investigate mutations of SCN5A gene in Chinese Brugada syndrome.Methods Fifteen patients and their family members were screened for mutations by direct DNA sequeencing.Genomic DNAs were extracted from peripheral blood leukocytes.All 28 exons of SCN5A gene were amplified by PCR using 40 pairs of primers.The PCR prod- ucts were sequenced directly. Results A novel single missence mutation,G5080A(R1628Q),was identified, which caused the change of the structure of S4 in domain Ⅳ of α subunit coding for cardiac sodium channel.This mutation was not found in 150 unrelated normal individules.Conclusions A new mutation in domain Ⅳ of SCN5A were found in Chinese Brugada svndrome.